Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs). The diagnosis of this condition is based on clinical features, family history, and elevated LDL-cholesterol levels aided more recently by genetic testing. As the atherosclerotic burden is dependent on the degree and duration of exposure to raised LDL-cholesterol levels, early diagnosis and initiation of treatment is paramount. Statins are presently the mainstay in the management of these patients, although newer drugs, LDL apheresis, and other investigational therapies may play a role in certain subsets of FH, which are challenging to treat. Together these novel treatments have notably improved the prognosis of FH, especially that of the heterozygous patients. Despite these achievements, a majority of children fail to attain targeted lipid goals owing to persistent shortcomings in diagnosis, monitoring, and treatment. This review aims to highlight the screening, diagnosis, goals of therapy, and management options in patients with FH.

Background: There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies.
Materials and Methods: Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups.
Results: Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period.
Conclusions: This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period.

We report the successful re-screwing of the embolized duct occluder (DO) in three children for retrieval and to attempt redeployment. The DO was embolized into descending aorta immediately after the deployment in one child and within 24 h after the procedure in two further patients. The DO was re-screwed back by the DO delivery cable, using "sheath in sheath" in all three cases; however, successful retrieval could be done only in two. Repositioning in the patent ductus arteriosus (PDA) was done using the same device in those two children and surgical removal was needed in third child with perimembranous ventricular septal defect.

Paradoxical embolism resulting in cryptogenic stroke has received much attention recently, with the primary focus on patent foramen ovale (PFO). However, it is essential to be vigilant in the search for other causes of paradoxical embolic events, such as pulmonary arteriovenous malformations (PAVM). We describe successful closure of pulmonary AVM with a St Jude Medical (Plymouth, MN) Amplatzer TM vascular plug IV. The newer AVP-IV devices can be used for successful embolization of tortuous pulmonary AVM in remote locations where use of other traditional devices may be technically challenging.

Transcatheter closure of a large hypertensive patent ductus arteriosus is challenging with scant data about it. Even more challenging is retrieval of an embolized Amplatzer duct occluder. We report successful closure of a 12 mm large ductus with the Amplatzer muscular VSD occluder (post myocardial infarction) after percutaneous retrieval of the embolized, largest available, 16/14 mm Amplatzer duct occluder.

The role of cardiac MRI in the diagnosis and management of sinus venosus atrial septal defectMadhusudan Ganigara, David Tanous, David Celermajer, Rajesh PuranikMay-August 2014, 7(2):160-162DOI:10.4103/0974-2069.132509 PMID:24987269

Sinus venosus atrial septal defects (SV-ASDs) are inter-atrial communications caused by a deficiency of the common wall between the superior or inferior vena cava and the right-sided pulmonary veins. The diagnosis can be challenging, especially in adults with delayed presentation. We present images that illustrate an example of the role of cardiac magnetic resonance imaging (CMRI) in the diagnosis and follow-up of a patient with SV-ASD.

Context: Pulmonary vascular resistance (PVR) is a critical and essential parameter during the assessment and selection of modality of treatment in patients with congenital heart disease accompanied by pulmonary arterial hypertension.
Aim: The present study was planned to evaluate non-invasive echocardiographic parameters to assess pulmonary vascular resistance.
Settings and Design: This prospective observational study included 44 patients admitted in the cardiology and pediatric cardiology ward of our institution for diagnostic or pre-operative catheter based evaluation of pulmonary arterial pressure and PVR.
Materials and Methods: Detailed echocardiographic evaluation was carried out including tricuspid regurgitation velocity (TRV) and velocity time integral of the right-ventricular outflow tract (VTI RVOT ). These parameters were correlated with catheter-based measurements of PVR.
Results: The TRV/VTI RVOT ratio correlated well with PVR measured at catheterization (PVRcath) (r = 0.896, 95% confidence interval [CI] 0.816 to 0.9423, P < 0.001). Using the Bland-Altman analysis, PVR measurements derived from Doppler data showed satisfactory limits of agreement with catheterization estimated PVR. For a PVR of 6 Wood units (WU), a TRV/VTI RVOT value of 0.14 provided a sensitivity of 96.67% and a specificity of 92.86% (area under the curve 0.963, 95% confidence interval 0.858 to 0.997) and for PVR of 8 WU a TRV/VTI RVOT value of 0.17 provided a sensitivity of 79.17% and a specificity of 95% (area under the curve 0. 0.923, 95% confidence interval 0.801 to 0.982).
Conclusions: Doppler-derived ratio of TRV/VTI RVOT is a simple, non-invasive index, which can be used to estimate PVR.

We present three unusual cases of total anomalous systemic venous drainage (TASVD) where all the systemic veins were abnormally connected to the atrium that drained into the left ventricle (LV). All three patients had features consistent with left atrial isomerism. Based on the available evidence and review of literature we propose that TASVD be included as a part of the syndrome of left atrial isomerism. A classification for TASVD is also proposed with surgical implications.

This case series describe two patients with giant aneurysms of the atrial appendages. This report discusses the clinical symptoms, imaging modalities, indications for surgical intervention, and histology of atrial appendage aneurysms.

Pseudoaneurysm of ascending aorta after cardiac surgery is rare in children. We report a case of successful surgical exclusion of ascending aortic pseudoaneurysm in a 15-year-old boy. The neck of the aneurysm was in close proximity to the right coronary artery (RCA).

A mycotic aneurysm is a rare condition occasionally seen in patients with a history of prior cardiac or vascular surgery. Here we report the presentation of a mycotic aneurysm in a pediatric patient at the site of prior aortic coarctation repair. This patient's initial presentation suggested rheumatologic or oncologic disease, and after diagnosis he continued to show evidence of splenic, renal and vascular injury distal to the mycotic aneurysm site while being treated with antibiotics. We discuss the diagnosis, treatment and management of this condition.

Herein, we report an unusual case of right aortic arch with isolation of the left innominate artery in a case of double chamber right ventricle with ventricular septal defect. The blood supply to the innominate artery was by a collateral arising from the descending aorta. The embryological development of this anomaly can be explained by the hypothetical double aortic arch model proposed by Edwards with interruption of the arch at two levels.

All giant Kawasaki aneurysms may not regress fully; some may eventually calcify, undergo thrombosis, and get detected in asymptomatic adults at later age. Tomisaku Kawasaki initially described this illness as mucocutaneous lymph node syndrome in childhood in 1967 and coronary arteritis was recognized later. We present a 58-year-old male, possibly one of the oldest surviving patients with giant coronary aneurysms who presented with large secundum atrial septal defect (ASD) with heart failure. This indicates that the disease was perhaps prevalent outside Japan even before the first Kawasaki's description.

While aortico-right atrial tunnels with left to right shunt from aorta to right atrium are reported widely, pulmonary artery to right atrial tunnels have not been described so far. Such a tunnel will lead to a circular shunt with a recirculation of blood in the right sided cardiac chambers repeatedly bypassing the pulmonary capillary bed. This newly described pulmonary artery to right atrial tunnel was closed nonsurgically with a duct occluder after angiographic delineation.

A 10-year-old girl presented with a supraventricular tachycardia. A heart murmur was detected during a clinical examination; therefore, echocardiography was performed. This revealed a giant right ventricular myxoma that subtotally obstructed the right ventricular outflow tract. A myxoma in the right ventricle is uncommon in children. This rare intracardiac tumor was examined using multimodality imaging, and the patient underwent surgical resection. The pathologic features confirmed our suspicion and revealed an encapsulated tumor with myxomatoid stroma containing focal hemorrhages.

Familial homozygous hypercholesterolemia is one of the high risk factors that can result in premature coronary arterial disease leading to severe morbidity and premature death in children and young adults. We describe a rare example of extensive xanthoma tuberosum in a case of familial homozygous hypercholesterolemia.

The hemi-Fontan (HF) operation is a staging procedure in the journey towards an ultimate Fontan palliation. Although popular in the Western world, it has found limited application in the developing world. In this review we discuss the indications, techniques, merits, and demerits of this procedure along with its present day role in developing world where there is lack of awareness about this operation.